{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T04:30:36Z","timestamp":1770697836386,"version":"3.49.0"},"reference-count":44,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T00:00:00Z","timestamp":1675036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004410","name":"The Scientific and Technological Research Council of T\u00fcrkiye (T\u00dcB\u0130TAK)","doi-asserted-by":"publisher","award":["118S578"],"award-info":[{"award-number":["118S578"]}],"id":[{"id":"10.13039\/501100004410","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Cystinosis is a rare, devastating hereditary disease secondary to recessive CTNS gene mutations. The most commonly used diagnostic method is confirmation of an elevated leukocyte cystine level; however, this method is expensive and difficult to perform. This study aimed to identify candidate biomarkers for the diagnosis and follow-up of cystinosis based on multiomics studies. The study included three groups: newly-diagnosed cystinosis patients (patient group, n = 14); cystinosis patients under treatment (treatment group, n = 19); and healthy controls (control group, n = 30). Plasma metabolomics analysis identified 10 metabolites as candidate biomarkers that differed between the patient and control groups [L-serine, taurine, lyxose, 4-trimethylammoniobutanoic acid, orotic acid, glutathione, PE(O-18:1(9Z)\/0:0), 2-hydroxyphenyl acetic acid, acetyl-N-formil-5-metoxikinuramine, 3-indoxyl sulphate]. As compared to the healthy control group, in the treatment group, hypotaurine, phosphatidylethanolamine, N-acetyl-d-mannosamine, 3-indolacetic acid, p-cresol, phenylethylamine, 5-aminovaleric acid, glycine, creatinine, and saccharic acid levels were significantly higher, and the metabolites quinic acid, capric acid, lenticin, xanthotoxin, glucose-6-phosphate, taurine, uric acid, glyceric acid, alpha-D-glucosamine phosphate, and serine levels were significantly lower. Urinary metabolomic analysis clearly differentiated the patient group from the control group by means of higher allo-inositol, talose, glucose, 2-hydroxybutiric acid, cystine, pyruvic acid, valine, and phenylalanine levels, and lower metabolite (N-acetyl-L-glutamic acid, 3-aminopropionitrile, ribitol, hydroquinone, glucuronic acid, 3-phosphoglycerate, xanthine, creatinine, and 5-aminovaleric acid) levels in the patient group. Urine metabolites were also found to be significantly different in the treatment group than in the control group. Thus, this study identified candidate biomarkers that could be used for the diagnosis and follow-up of cystinosis.<\/jats:p>","DOI":"10.3390\/ijms24032603","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T04:58:25Z","timestamp":1675054705000},"page":"2603","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Metabolomic Analyses to Identify Candidate Biomarkers of Cystinosis"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7337-6215","authenticated-orcid":false,"given":"Emirhan","family":"Nemutlu","sequence":"first","affiliation":[{"name":"Faculty of Pharmacy, Department of Analytical Chemistry, Hacettepe University, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1194-0164","authenticated-orcid":false,"given":"Fatih","family":"Ozaltin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Hacettepe University School of Medicine, Sihhiye, Ankara 06100, T\u00fcrkiye"},{"name":"Nephrogenetics Laboratory, Department of Pediatric Nephrology, Hacettepe University School of Medicine, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samiye","family":"Yabanoglu-Ciftci","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Department of Biochemistry, Hacettepe University, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bora","family":"Gulhan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Hacettepe University School of Medicine, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3353-2869","authenticated-orcid":false,"given":"Cemil Can","family":"Eylem","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Department of Analytical Chemistry, Hacettepe University, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9607-4199","authenticated-orcid":false,"given":"\u0130pek","family":"Baysal","sequence":"additional","affiliation":[{"name":"Vocational School of Health Services, Hacettepe University, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2586-8207","authenticated-orcid":false,"given":"Elif Damla","family":"G\u00f6k-Topak","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Department of Analytical Chemistry, Hacettepe University, Sihhiye, Ankara 06100, T\u00fcrkiye"},{"name":"Faculty of Pharmacy, Department of Analytical Chemistry, Lokman Hekim University, Sogutozu, Ankara 06510, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kezban","family":"Ulubayram","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Department of Basic Pharmaceutical Sciences, Hacettepe University, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osman Ugur","family":"Sezerman","sequence":"additional","affiliation":[{"name":"Biostatistics and Medical Informatics Program, Faculty of Medicine, Graduate School of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8647-1545","authenticated-orcid":false,"given":"Gulberk","family":"Ucar","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Department of Biochemistry, Hacettepe University, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sedef","family":"K\u0131r","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Department of Analytical Chemistry, Hacettepe University, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rezan","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Hacettepe University School of Medicine, Sihhiye, Ankara 06100, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"iv87","DOI":"10.1093\/ndt\/gfu090","article-title":"Nephropathic cystinosis: An international consensus document","volume":"29","author":"Emma","year":"2014","journal-title":"Nephrol. 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